ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu)

gnomAD frequency: 0.00003  dbSNP: rs200985982
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724687 SCV000225389 uncertain significance not provided 2015-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000724687 SCV000241710 likely benign not provided 2021-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000702921 SCV000831798 uncertain significance Intellectual disability, autosomal dominant 1 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 968 of the MBD5 protein (p.Ser968Leu). This variant is present in population databases (rs200985982, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with MBD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 193912). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MBD5 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000724687 SCV001714001 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724687 SCV004154084 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing

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